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ACADL acyl-CoA dehydrogenase long chain [ Homo sapiens (human) ]

Gene ID: 33, updated on 2-Mar-2024

Summary

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Official Symbol
ACADLprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase long chainprovided by HGNC
Primary source
HGNC:HGNC:88
See related
Ensembl:ENSG00000115361 MIM:609576; AllianceGenome:HGNC:88
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCAD; ACAD4
Summary
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
Expression
Broad expression in thyroid (RPKM 10.1), fat (RPKM 9.6) and 14 other tissues See more
Orthologs
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Genomic context

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See ACADL in Genome Data Viewer
Location:
2q34
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (210187923..210225447, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210668601..210706298, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (211052647..211090171, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene ribosomal protein L6 pseudogene 6 Neighboring gene uncharacterized LOC107985977 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:211035158-211035792 and GRCh37_chr2:211035793-211036428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:211036429-211037062 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:211042111-211042612 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:211042613-211043112 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:211045686-211046331 Neighboring gene uncharacterized LOC124907972 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:211111447-211112014 Neighboring gene myosin light chain 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months. Guffon N, et al. Mol Genet Metab, 2021 Apr. PMID 33610471
  2. The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function. Beck ME, et al. Mol Genet Metab, 2020 Sep-Oct. PMID 32389575, Free PMC Article
  3. Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle. Maher AC, et al. Mol Genet Metab, 2010 Jun. PMID 20363655, Free PMC Article
  4. Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids. Lea W, et al. Biochim Biophys Acta, 2000 May 31. PMID 10832093
  5. 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation. Wanders RJ, et al. Biochim Biophys Acta, 1998 Jul 31. PMID 9714723

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bulk and single-cell transcriptome profiling reveal extracellular matrix mechanical regulation of lipid metabolism reprograming through YAP/TEAD4/ACADL axis in hepatocellular carcinoma.
    Title: Bulk and single-cell transcriptome profiling reveal extracellular matrix mechanical regulation of lipid metabolism reprograming through YAP/TEAD4/ACADL axis in hepatocellular carcinoma.
  2. ACADL suppresses PD-L1 expression to prevent cancer immune evasion by targeting Hippo/YAP signaling in lung adenocarcinoma.
    Title: ACADL suppresses PD-L1 expression to prevent cancer immune evasion by targeting Hippo/YAP signaling in lung adenocarcinoma.
  3. Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
    Title: Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
  4. The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function.
    Title: The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function.
  5. Long-chain acyl-CoA dehydrogenase can be a source of mitochondrial hydrogen peroxide.
    Title: The fatty acid oxidation enzyme long-chain acyl-CoA dehydrogenase can be a source of mitochondrial hydrogen peroxide.
  6. the fatty acid oxidation pathway and LCAD are factors contributing to the pathophysiology of pulmonary disease
    Title: Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.
  7. Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.
    Title: Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.
  8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  9. LCAD is minimally expressed in human skeletal muscle and likely does not play a significant role in long-chain fatty acid oxidation.
    Title: Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Long chain acyl-CoA dehydrogenase deficiency
MedGen: C0220711 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism.
EBI GWAS Catalog
A genome-wide perspective of genetic variation in human metabolism.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ94052

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
  
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables long-chain fatty acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables long-chain fatty acyl-CoA dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables palmitoyl-CoA oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables palmitoyl-CoA oxidase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in carnitine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in carnitine metabolic process, CoA-linked IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carnitine metabolic process, CoA-linked ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular lipid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in regulation of cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
long-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
acyl-Coenzyme A dehydrogenase, long chain
long-chain acyl-CoA dehydrogenase
NP_001599.1
XP_005246574.1
XP_047300059.1
XP_054197656.1
XP_054197657.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008002.1 RefSeqGene

    Range
    5045..42569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001608.4 → NP_001599.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001599.1

    Status: REVIEWED

    Source sequence(s)
    AC006994, BC039063, DC350098
    Consensus CDS
    CCDS2389.1
    UniProtKB/Swiss-Prot
    B2R8T3, P28330, Q8IUN8
    Related
    ENSP00000233710.3, ENST00000233710.4
    Conserved Domains (1) summary
    cd01160
    Location:55 → 427
    LCAD; Long chain acyl-CoA dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    210187923..210225447 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246517.5 → XP_005246574.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd01160
    Location:34 → 406
    LCAD; Long chain acyl-CoA dehydrogenase
    COG1960
    Location:32 → 406
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  2. XM_047444103.1 → XP_047300059.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    210668601..210706298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341681.1 → XP_054197656.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

  2. XM_054341682.1 → XP_054197657.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28330.2 GenPept UniProtKB/Swiss-Prot:P28330

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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